Case of T-B+NK+ X-Linked Severe Combined Immunodeficiency Disease
We report a case of T-B+NK+ severe combined immunodeficiency disease (SCID) caused by IL2RG gene mutation (NM_000206.3 [IL2RG]: c.925-2A > G). The patient, a 2-month-old male, experienced multiple infections and decreased white blood cells in the early postnatal period. Antibiotic treatment was i...
Saved in:
| Main Authors: | , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Wiley
2024-01-01
|
| Series: | Case Reports in Medicine |
| Online Access: | http://dx.doi.org/10.1155/2024/4278595 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| _version_ | 1849410996484964352 |
|---|---|
| author | Wenya Qian Min Wu Guanling Wang |
| author_facet | Wenya Qian Min Wu Guanling Wang |
| author_sort | Wenya Qian |
| collection | DOAJ |
| description | We report a case of T-B+NK+ severe combined immunodeficiency disease (SCID) caused by IL2RG gene mutation (NM_000206.3 [IL2RG]: c.925-2A > G). The patient, a 2-month-old male, experienced multiple infections and decreased white blood cells in the early postnatal period. Antibiotic treatment was ineffective and ultimately resulted in multiple organ failure. The second-generation gene sequencing of patient showed that the IL2RG gene had a hemizygous mutation NM_000206.3 (IL2RG): c.925-2A > G, indicating a classical splice site mutation. According to the guidelines of the American College of Medical Genetics (ACMG), NM_00206.3 (IL2RG): c.925-2A > G variants can be classified as pathogenic (PVS1&PM1&PM6). |
| format | Article |
| id | doaj-art-623b3b3e6bee4891a76844caf7e3e957 |
| institution | Kabale University |
| issn | 1687-9635 |
| language | English |
| publishDate | 2024-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Medicine |
| spelling | doaj-art-623b3b3e6bee4891a76844caf7e3e9572025-08-20T03:34:53ZengWileyCase Reports in Medicine1687-96352024-01-01202410.1155/2024/4278595Case of T-B+NK+ X-Linked Severe Combined Immunodeficiency DiseaseWenya Qian0Min Wu1Guanling Wang2Department of PediatricsDepartment of PediatricsDepartment of PediatricsWe report a case of T-B+NK+ severe combined immunodeficiency disease (SCID) caused by IL2RG gene mutation (NM_000206.3 [IL2RG]: c.925-2A > G). The patient, a 2-month-old male, experienced multiple infections and decreased white blood cells in the early postnatal period. Antibiotic treatment was ineffective and ultimately resulted in multiple organ failure. The second-generation gene sequencing of patient showed that the IL2RG gene had a hemizygous mutation NM_000206.3 (IL2RG): c.925-2A > G, indicating a classical splice site mutation. According to the guidelines of the American College of Medical Genetics (ACMG), NM_00206.3 (IL2RG): c.925-2A > G variants can be classified as pathogenic (PVS1&PM1&PM6).http://dx.doi.org/10.1155/2024/4278595 |
| spellingShingle | Wenya Qian Min Wu Guanling Wang Case of T-B+NK+ X-Linked Severe Combined Immunodeficiency Disease Case Reports in Medicine |
| title | Case of T-B+NK+ X-Linked Severe Combined Immunodeficiency Disease |
| title_full | Case of T-B+NK+ X-Linked Severe Combined Immunodeficiency Disease |
| title_fullStr | Case of T-B+NK+ X-Linked Severe Combined Immunodeficiency Disease |
| title_full_unstemmed | Case of T-B+NK+ X-Linked Severe Combined Immunodeficiency Disease |
| title_short | Case of T-B+NK+ X-Linked Severe Combined Immunodeficiency Disease |
| title_sort | case of t b nk x linked severe combined immunodeficiency disease |
| url | http://dx.doi.org/10.1155/2024/4278595 |
| work_keys_str_mv | AT wenyaqian caseoftbnkxlinkedseverecombinedimmunodeficiencydisease AT minwu caseoftbnkxlinkedseverecombinedimmunodeficiencydisease AT guanlingwang caseoftbnkxlinkedseverecombinedimmunodeficiencydisease |